Linked Data
ClinVar Variation Id:
305967
dbSNP Id:
rs141057811
gnomAD v2:
11-71159399-C-A
gnomAD v3:
11-71448353-C-A
gnomAD v4:
11-71448353-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71448353C>A , CM000673.2:g.71448353C>A | GRCh38 |
| NC_000011.9:g.71159399C>A , CM000673.1:g.71159399C>A | GRCh37 |
| NC_000011.8:g.70837047C>A | NCBI36 |
| NG_012655.2:g.5079G>T , LRG_340:g.5079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.-208G>T | ENSP00000435707.3:n.-208G>T | |
| ENST00000527316.6:c.-440G>T | ENSP00000435047.2:n.-440G>T | |
| ENST00000529990.6:c.-407G>T | ENSP00000435058.2:n.-407G>T | |
| ENST00000682708.1:c.-195G>T | ENSP00000506866.1:n.-195G>T | |
| ENST00000682880.1:c.-195G>T | ENSP00000507520.1:n.-195G>T | |
| ENST00000683287.1:c.-195G>T | ENSP00000507607.1:n.-195G>T | |
| ENST00000683714.1:c.-195G>T | ENSP00000508207.1:n.-195G>T | |
| ENST00000683874.1:n.83G>T | ||
| ENST00000685320.1:c.-429G>T | ENSP00000509319.1:n.-429G>T | |
| ENST00000690257.1:c.-195G>T | ENSP00000510750.1:n.-195G>T | |
| ENST00000355527.8:c.-195G>T MANE Select | ENSP00000347717.4:n.-195G>T | |
| ENST00000355527.7:c.-195G>T | ENSP00000347717.3:n.-195G>T | |
| ENST00000407721.6:c.-172G>T | ENSP00000384739.2:n.-172G>T | |
| ENST00000527316.5:c.-195G>T | ENSP00000435047.1:n.-195G>T | |
| ENST00000527452.1:c.-131-619G>T | ENSP00000436007.1:n.-131-619G>T | |
| ENST00000529990.5:c.-293G>T | ENSP00000435058.1:n.-293G>T | |
| ENST00000531364.5:c.-187G>T | ENSP00000432589.1:n.-187G>T | |
| NM_001163817.1:c.-172G>T | NP_001157289.1:n.-172G>T | |
| NM_001360.2:c.-195G>T , LRG_340t1:c.-195G>T | NP_001351.2:n.-195G>T | |
| XM_011544777.1:c.-195G>T | XP_011543079.1:n.-195G>T | |
| XM_011544777.2:c.-195G>T | XP_011543079.1:n.-195G>T | |
| NM_001163817.2:c.-172G>T | NP_001157289.1:n.-172G>T | |
| NM_001360.3:c.-195G>T MANE Select | NP_001351.2:n.-195G>T |